Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1449964136
MITF
0.925 0.120 3 69936725 start lost G/A snv 8.0E-06 7.0E-06 2
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs587776825
HNF1A
0.827 0.280 12 120994315 frameshift variant C/-;CC;CCC delins 5
rs1131690838
FLCN
0.925 0.120 17 17228135 frameshift variant C/- del 3
rs864321679
SMIM4 ; PBRM1
1.000 0.120 3 52563364 frameshift variant CACTATCT/- delins 1
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs3746444
MIR499A ; MIR499B ; MYH7B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs3025039
VEGFA
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 62
rs16917496
KMT5A
0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv 21
rs10434
VEGFA
0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 17
rs1049334
CAV1
0.851 0.280 7 116560326 3 prime UTR variant G/A;T snv 6
rs707889
HFE
0.827 0.200 6 26095703 3 prime UTR variant G/A;T snv 6
rs1049380
ITPR2
0.827 0.120 12 26336611 3 prime UTR variant G/T snv 0.69 5
rs34917480
EML6 ; RTN4
0.925 0.160 2 54972426 3 prime UTR variant -/TTA ins 7.0E-06 3
rs5742714
IGF1 ; HELLPAR ; LINC02456
0.882 0.160 12 102396074 3 prime UTR variant C/G snv 8.9E-02 3
rs2050462
CSF1
0.925 0.120 1 109930334 3 prime UTR variant T/A;G snv 2
rs2241261
RHOBTB2
0.925 0.120 8 23019226 3 prime UTR variant C/G;T snv 2
rs9332
MTRR
0.925 0.200 5 7900599 3 prime UTR variant G/A snv 0.21 2
rs1055259
GSTM3 ; GSTM5
1.000 0.120 1 109734239 3 prime UTR variant T/C snv 0.12 1
rs1642742
VHL
1.000 0.120 3 10150259 3 prime UTR variant G/A snv 0.57 1
rs706209
CBS
1.000 0.120 21 43053315 3 prime UTR variant G/A snv 1
rs758175953
FLCN
0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05 6